Importance of the genetics in the diagnostics of hydatidiform mole
Authors:
Lajos Gergely 1; H. Gbelcová 1; Vanda Repiská 1; Ľudovít Danihel 2; M. Korbeľ 3; Petra Priščáková 1
Authors‘ workplace:
Ústav lekárskej biológie, genetiky a klinickej genetiky, Lekárska fakulta UK a UNB, Bratislava, prednosta, doc. MUDr. D. Böhmer, PhD.
1; Ústav patologickej anatómie, Lekárska fakulta UK a UNB Bratislava, prednosta prof. MUDr. Ľ. Danihel, PhD.
2; I. gynekologicko-pôrodnícka klinika, Lekárska fakulta UK a UNB, Bratislava, prednosta prof. MUDr., M. Borovský, CSc.
3
Published in:
Ceska Gynekol 2020; 85(4): 275-281
Category:
Overview
Objective: To summarize the possibilities of the genetic analysis of hydatidiform moles and point out its perspectives in the diagnostics of this disease.
Design: Review.
Setting: Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Slovak Republic.
Methods: Analysis of published literature data from the internet databases PubMed, ScienceDirect, Scopus and printed literature from the period 1963–2019.
Results: This review refers on karyotyping, flow cytometry, FISH (Fluorescent in Situ Hybridization), VNTR-RFLP analysis (Variable Number of Tandem Repeats-Restriction Fragment Length Polymorphism), VNTR-PCR analysis (Variable Number of Tandem Repeats-Polymerase Chain Reaction) and STR (Short Tandem Repeat) genotyping of hydatidiform moles. The article summarizes possible application of these methods in the differential diagnostics of molar pregnancy (partial and complete hydatidiform moles) and nonmolar hydropic abortions.
Conclusion: Genetic analyses offer precise identification of types of molar pregnancies when histopathological diagnosis is not clear during early stages of pathology.
Keywords:
gestational trophoblastic disease – hydatidiform moles – DNA diagnostics
Sources
1. Akoury, E., Gupta, N., Bagga, R., et al. Live births in women with recurrent hydatidiform mole and two NLRP7 mutations. Reprod Biomed Online, 2015, 31, 1, p. 120–124.
2. Al-Talib, A. Molar pregnancy. Eur J Pharm Med Res, 2018, 5(6), p. 167–171.
3. Balachandran, K., Salawu, A., Ghorani, E., et al. When to stop human chorionic gonadotrophin (hCG) surveillance after treatment with chemotherapy for gestational trophoblastic neoplasia (GTN): A national analysis on over 4,000 patients. Gynecol Oncol, 2019, 155, 1, p. 8–12.
4. Banet, N., DeScipio, C., Murphy, KM., et al. Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping. Mod Pathol, 2014, 27, 2, p. 238–254.
5. Barber, EL., Soper, JT. Gestational Trophoblastic Disease. In: Philip J. DiSaia, William T. Creasman, Robert S Mannel, D. Scott McMeekin, David G Mutch, eds. Clinical gynecologic oncology. 9th ed. Canada: Elsevier, 2017, p. 163–189.e5.
6. Blanco, A., Blanco, G. The genetic information (I). In Blanco, A., Blanco, G. Medical biochemistry, Canada: Academic press, 2017, p. 465–492.
7. Bolze, PA., Patrier, S., Cheynet, V., et al. Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles. Placenta, 2016, 39, p. 116–124.
8. Braga, A., Maesta, I., Rocha Soares, R., et al. Apoptotic index for prediction of post molar gestational trophoblastic neoplasia. Am J Obstet Gynecol, 2016, 215, 3, p. 336.e1–336.e12.
9. Candelier, JJ. The hydatidiform mole. Cell Adh Migr, 2016, 10, 1–2, p. 226–235.
10. Carey, L., Nash, BM., Wright, DC. Molecular genetic studies of complete hydatidiform moles. Transl Pediatr, 2015, 4, 2, p. 181–188.
11. Cole, LA., Butler, SA., Khanlian, SA., et al. Gestational trophoblastic diseases: 2. Hyperglycosylated hCG as a reliable marker of active neoplasia. Gynecol Oncol, 2006, 102, p. 151–159.
12. Čierna, Z., Palkovič, M., Danihel Ľ. ml., et al. Expresia markeru p57 v diferenciálnej diagnostike kompletnej a parciálnej moly – korelácia s DNA analýzou. Čes-slov Patol, 2012, 48, 4, s. 218–221.
13. Fallahian, M., Sebire, NJ., Savage, PM., et al. Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. Hum Mutat, 2013, 34, 2, p. 301–308.
14. Fisher, RA., Sebire, NJ. Gestational trophoblastic disease, biology and pathology of trophoblast, Moffett, Loke, McClaren, eds. Publisher: Cambridge University Press. 2005. p. 74–110.
15. Heller, DS. Update on the pathology of gestational trophoblastic disease. APMIS, 2018, 126, 7, p. 647–654. doi:10.1111/apm.12786.
16. Hui, P., Baergen, R., Cheung, A., et al. Gestational trophoblastic disease. In: Kurman, R., Carcangiu, ML., Herrington, S., Young, R., eds. WHO Classification of Tumours of Female Reproductive Organs. 4th ed. Lyon, France: International Agency for Research on Cancer, 2014. p. 156–187.
17. Hui, P. Gestational trophoblastic disease. Diagnostic and Molecular Genetic Pathology. New York: Humana Press, 2012, p. 205.
18. Kajii, T., Ohama, K. Androgenetic origin of hydatidiform mole. Nature, 1977, 268, p. 633–634.
19. Wake, N., Seki, T., Fujita, H. Malignant potential of homozygous and heterozygous complete moles. Cancer Res, 1984, 44, 3, p. 1226–1230.
20. Korbeľ, M., Nižňanská, Z., Redecha, M. Kompletná a parciálna mola hydatidóza – etiopatogenéza, diagnostika, liečba a dispenzarizácia. Gynekol prax, 2007, 5, 2, s. 106–112.
21. Kubelka-Sabit K., Jasar D., Filipovski V., et al. Molecular and histological characteristics of early triploid and partial molar pregnancies. Pol J Pathol, 2017, 68(2), p. 138–143. doi:10.5114/ pjp.2017.69689.
22. Lurain, JR. Gestational trophoblastic disease I: epidemiology, pathology, clinical presentation and diagnosis of gestational trophoblastic disease, and management of hydatidiform mole. Am J Obstet Gynecol, 2010, 203, 6, p. 531–539.
23. MacVicar, J., Donald, I. Sonar in the diagnosis of early pregnancy and its complications. J Obstet Gynaecol Br Commonw, 1963, 70, p. 387–395.
24. McMahon, K., Paciorkowski, AR., Walters-Sen, LC., et al. Neurogenetics in the Genome Era. In Swaiman, K., Ashwal, S., Ferriero, D. et al. Swaiman’s pediatric neurology. Canada: Elsevier, 2017, p. 257–267.
25. Moein-Vaziri, N., Fallahi, J., Namavar-Jahromi, B., et al. Clinical and genetic-epigenetic aspects of recurrent hydatidiform mole: A review of literature. Taiwan J Obstet Gynecol, 2018, 57, 1, p. 1–6.
26. Nguyen, NMP., Khawajkie, Y., Mechtouf, N., et al. The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients. Mod Pathol, 2018, 31, 7, p. 1116–1130.
27. Repiska, V., Vojtassak, J., Korbel, M., et al. DNA analysis of gestational trophoblastic disease. Čes Gynek, 2003, 68, 6, s. 442–448.
28. Ronnett, BM. Hydatidiform moles: Ancillarytechniques to refine diagnosis. Arch Pathol Lab Med, 2018, 142, 12, p. 1485–1502.
29. Samadder, A., Kar, R. Utility of p57 immunohistochemistry in differentiating between complete mole, partial mole & non-molar or hydropic abortus. Indian J Med Res, 2017, 145, 1, p. 133–137.
30. Sanchez-Delgado, M., Martin-Trujillo, A., Tayama, C., et al. Absence of maternal methylation in biparental hydatidiform moles from women with NLRP7 maternal effect mutations reveals widespread placenta-specific imprinting. PLoS Genet, 2015, 11, 11, e1005644.
31. Sebire, NJ., Foskett M., Paradinas FJ., et al. Outcome of twin pregnancies with complete hydatidiform mole and healthy cotwin. Lancet, 2002, 22, 359(9324), p. 2165–2166.
32. Seckl, MJN., Sebire, J., Fisher, RA., et al. Gestational trophoblastic disease: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol, 2013, 24, 6, p. vi39–vi50.
33. Vojtaššák, J., Vojtaššák, B. Genetické aspekty gestačných trofoblastových tumorov. Gynekol prax, 2014, 12, 3, s. 145–149.
Labels
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicineArticle was published in
Czech Gynaecology
2020 Issue 4
Most read in this issue
- Cesarean scar defect – manifestation, diagnostics, treatment
- What next in cervical cancer screening?
- Benefits of exercise in the prenatal and postnatal period
- Assisted reproductive methods – current status and perspectives